{"title":"The effect of aqueous extract of orchid root on the structure of ovary and hypothalamicpituitary- gonadal hormones in polycystic ovary syndrome rat model: An experimental study","authors":"Hassanali Abedi, Armin Zarrin-Mehr, Bahare Ebrahimi, Hoda Haghshenas, Negar Parvin, Hossein Kargar Jahromi","doi":"10.18502/ijrm.v22i3.16164","DOIUrl":"https://doi.org/10.18502/ijrm.v22i3.16164","url":null,"abstract":"Background: Some medical conditions, including polycystic ovarian syndrome (PCOs), may lead to infertility. In PCOs, hormonal imbalance is significant. Antioxidants such as natural antioxidants have many health benefits, including positive effects on hormone production. \u0000Objective: Since herbal medicines are more acceptable to people, the present study was designed to evaluate the effect of an aqueous extract of orchid (SA), with antioxidative effects, on the structure of the ovary and the hypothalamic-pituitarygonadal axis hormones and free testosterone in PCOs rats. \u0000Materials and Methods: In this experimental study, 64 healthy female Wistar rats (180–200 g) were randomly divided into 60 and 89 day control groups, PCOs, and 4 PCOs + SA groups that received 40, 80, 160, and 320 mg/kg of SA. Serum levels of gonadotropin-releasing hormone, estrogen, progesterone, testosterone, follicle-stimulating hormone, and luteinizing hormone were measured. In addition, the ovaries were extracted and examined histologically. \u0000Results: The amount of primordial, primary, secondary, and Graafian follicles and serum levels of Follicle-stimulating hormone and progesterone hormones decreased in PCOs groups, while atretic follicles and the serum levels of gonadotropin-releasing hormone, luteinizing hormone, estrogen, and free testosterone were increased. SA at different doses regulated hormonal and histological imbalances caused by PCOs, and 320 mg/kg was the most effective. \u0000Conclusion: The aqueous extract of orchids root can have a positive effect on the improvement of polycystic ovary syndrome. This effect can be achieved by regulating the level of sex hormones and correcting follicular abnormalities in the ovarian tissue. \u0000Key words: PCOS, Orchid, Ovary, GnRH, LH, FSH.","PeriodicalId":318611,"journal":{"name":"International Journal of Reproductive BioMedicine (IJRM)","volume":"113 12","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140986672","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Maryam Zare Moghaddam, Fateme Zare, R. Sandoghsaz, Abbas Khalili, Ali Shams
{"title":"Human Va7.2-Ja33 mucosal-associated invariant T cells in endometrial ectopic tissues tend to produce interferon-gamma: A new player in endometriosis etiology: A case-control study","authors":"Maryam Zare Moghaddam, Fateme Zare, R. Sandoghsaz, Abbas Khalili, Ali Shams","doi":"10.18502/ijrm.v22i3.16168","DOIUrl":"https://doi.org/10.18502/ijrm.v22i3.16168","url":null,"abstract":"Background: Endometriosis is a chronic estrogen-related inflammatory disorder that is known by proliferating endometrial cells in a place outside the uterus. The high presence of immune cells in the peritoneal fluid of women with endometriosis confirms the involvement of the immune system in the pathogenesis of the disease. Mucosal-associated invariant T (MAIT) cells play an undeniable impact on mucosal immunity by the production of interleukin-17, interferon-gamma (IFN-γ), and tumor necrosis factor-alpha. The function of the cells in the pathogenesis of endometriosis is less investigated. \u0000Objective: This study aims to investigate the infiltration of MAIT cells by using the determination levels of Vα7.2-Jα33 gene expression in eutopic and ectopic tissue of endometriosis lesions. \u0000Materials and Methods: In this case-control study, the tested samples include 20 eutopic and 20 ectopic tissues of women with endometriosis and 20 uterine endometrial tissues of women in the control group. Expressions of the Vα-Jα tumor necrosis factor-alpha, interleukin-17A, and IFN-γ genes were analyzed by quantitative reverse transcriptase-polymerase chain reaction. \u0000Results: According to the results, Vα7.2-Jα33 gene expression did not show substantial elevation in the uterine and eutopic endometrial tissues compared to internal gene control as well as in ectopic tissues. Correlation analysis approved a positive relationship between Vα7.2-Jα33 expression genes and IFN-γ levels in ectopic tissues. \u0000Conclusion: Considering the low-expression specific gene of MAIT cells in ectopic tissue, it can be concluded that these cells are present in the endometriotic environment to a certain extent, and there is a possibility of their role in the progression of endometriosis by secreting IFN-γ. \u0000Key words: Endometriosis, MAIT, IFN-γ, TNF-α, TCR V alpha 7.2-J alpha33, IL-17","PeriodicalId":318611,"journal":{"name":"International Journal of Reproductive BioMedicine (IJRM)","volume":"118 15","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140986311","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Z. Loukzadeh, Nazila Eslamy, Marziyeh Dehghan, A. Mehrparvar
{"title":"The impact of premenstrual disorders on work disruptions among working women: A cross-sectional study","authors":"Z. Loukzadeh, Nazila Eslamy, Marziyeh Dehghan, A. Mehrparvar","doi":"10.18502/ijrm.v22i2.15712","DOIUrl":"https://doi.org/10.18502/ijrm.v22i2.15712","url":null,"abstract":"Background: Physical and emotional manifestations of premenstrual disorder cause increased absenteeism, decreased productivity, and decreased work-related quality of life. \u0000Objective: Due to the relatively high prevalence of premenstrual disorders in Iran and limited studies on its work-related problems, this study investigated the relationship between premenstrual disorders and work performance in working women. \u0000Materials and Methods: This cross-sectional study was conducted on 358 working women (teachers and industrial workers) in Yazd, Iran, from July 2019 to January 2020. Data were collected using premenstrual symptom screening tool, the work productivity and activity impairment (a modified version), and functional work capacity questionnaires. Women were classified into 2 groups: women with and without premenstrual disorders. Productivity, functional capacity, and ability to perform activities of daily living were compared between groups. \u0000Results: Among 358 participants, 121 women (33.8%) had premenstrual disorders. The prevalence of premenstrual disorders was significantly higher in teachers than workers (0.41% vs. 24.7%, respectively) (p = 0.002). The work results showed a worse score in the group with premenstrual disorder than the other group and teachers compared to workers (p < 0.001). \u0000Conclusion: This study showed a significant association between premenstrual disorders and worse work productivity, functional work capacity, and ability to perform activities of daily living. Teachers had a higher prevalence of premenstrual disorders and worse work performance than workers, which can be due to higher education levels, work stress, more complex tasks, and increased work responsibility in teachers. \u0000 \u0000Key words: Premenstrual syndrome, Premenstrual dysphoric disorder, Work performance, Working women, Productivity.","PeriodicalId":318611,"journal":{"name":"International Journal of Reproductive BioMedicine (IJRM)","volume":"113 43","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140381317","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Analysis of single umbilical artery with concurrent congenital anomaly: Is it a risk factor for poor prognosis? A cross-sectional study","authors":"N. Lee, Hee Joung Choi","doi":"10.18502/ijrm.v22i2.15710","DOIUrl":"https://doi.org/10.18502/ijrm.v22i2.15710","url":null,"abstract":"Background: A single umbilical artery (SUA) may coexist with a single anomaly or multiple congenital anomalies. Although anomalies associated with SUA can primarily cause high perinatal mortality, their clinical significance has not been evaluated. \u0000Objective: We investigated the relationship between the clinical features and the type or number of concurrent anomalies in neonates with SUA. \u0000Materials and Methods: In this cross-sectional study, 104 neonates with SUA were enrolled from January 2000- to December 2020 at Dongsan hospital, Daegu, South Korea. Data on the maternal history and the neonates demographic characteristics, clinical course, chromosomal analysis, and congenital anomalies, were collected. \u0000Results: Among the neonates with SUA included, 77 (74.0%) had one or more congenital anomalies; 66 (63.5%) were cardiac, 20 (19.2%) were genitourinary, 12 (11.5%) were gastrointestinal, 5 (4.8%) were central nervous system, 12 (11.5%) were skeletal, and 5 (4.8%) were facial anomalies. The number of concurrent anomalies ranged from 0–4. Neonates with SUA and concurrent gastrointestinal anomaly had a high incidence of initial positive ventilation, intubation, and inotropic drug use and lower Apgar score at 1 min and 5 min. 7 (6.7%) neonates with SUA died. Low birth weight (odds ratio = 6.16, p = 0.05), maternal multiparity (2.41, p = 0.13), gastrointestinal anomaly (5.06, p = 0.11), and initial cardiac resuscitation (7.77, p = 0.11) were risk factors for mortality in neonates with SUA. \u0000Conclusion: Neonates with SUA and concurrent gastrointestinal anomaly, low birth weight, maternal multiparity, and initial cardiac resuscitation had poor outcomes. \u0000Key words: Single umbilical artery, Congenital abnormalities, Perinatal mortality.","PeriodicalId":318611,"journal":{"name":"International Journal of Reproductive BioMedicine (IJRM)","volume":" 19","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140384968","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Parastoo Nikkhouy, M. Abbasnejad, S. Esmaeili-Mahani, R. Kooshki
{"title":"Mode of delivery alters sensitivity to thermal and chemical stimuli in adult rats: An experimental study","authors":"Parastoo Nikkhouy, M. Abbasnejad, S. Esmaeili-Mahani, R. Kooshki","doi":"10.18502/ijrm.v22i2.15707","DOIUrl":"https://doi.org/10.18502/ijrm.v22i2.15707","url":null,"abstract":"Background: The mode of delivery might prompt a long-lasting alteration in physiological and behavioral responsiveness in offspring. \u0000Objective: This study was intended to evaluate if the mode of delivery could alter sensitivity to thermal and chemical stimuli in female rats. \u0000Materials and Methods: 56 adult female Wistar rats (200–220 gr) that were born by vaginal or cesarean section (C-section) were used (n = 28/each). Inflammatory pain was induced by subcutaneous injection of formalin into the hind paw. The thermal nociceptive threshold was determined by tail-flick and hot plate tests. Besides, the Western blot test was used to evaluate the spinal cord levels of c-Fos and c-Jun proteins. \u0000Results: Formalin-induced inflammation was significantly decreased in C-section group as compared to vaginally born rats (p < 0.001). The baseline nociceptive threshed and morphine-induced analgesia were significantly increased in C-section groups in comparison to vaginally born rats. In addition, the levels of c-Fos and c-Jun proteins were significantly decreased in the spinal cord of C-section rats as compared to vaginally born animals (p < 0.01). Morphine treatment could decrease the expression of c-Fos and c-Jun in the C-section group (p < 0.05). \u0000Conclusion: Overall, C-section rats showed lower spinal nociceptive processing and neuronal activity later in life, compared to the vaginal born rats. \u0000Key words: Childbirth, C-section, Nociception, Inflammation, Rats. \u0000 ","PeriodicalId":318611,"journal":{"name":"International Journal of Reproductive BioMedicine (IJRM)","volume":" 61","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140384186","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Sedigheh Hosseinimousa, Saymaz Navaei, M. Talebian
{"title":"Molar cesarean scar ectopic pregnancy: Report of 2 cases with review of literature","authors":"Sedigheh Hosseinimousa, Saymaz Navaei, M. Talebian","doi":"10.18502/ijrm.v22i2.15714","DOIUrl":"https://doi.org/10.18502/ijrm.v22i2.15714","url":null,"abstract":"Background: The occurrence of hydatidiform mole at the cesarean scar site is a rare problem. Few cases have been reported, thus there is not enough information for accurate diagnosis and management of this event. \u0000Case Presentation: Herein, we present 2 cases of an invasive hydatidiform mole embedded in cesarean scar tissue, one presented with occasional hypogastric pain and nausea and another with spotting both with a history of cesarean section. Transvaginal ultrasonography and a considerably high titer of beta-human chorionic gonadotropin blood test suggested the existence of molar pregnancy on the cesarean scar, which was confirmed through histological assessment. In the first case, evacuation of molar pregnancy followed by scar resection at the cesarean scar site led to successful fertility preservation management. \u0000Conclusion: The presence of abdominal pain and unexplained bleeding in a pregnant woman without gestational sac in ultrasonography, strongly suggests ectopic pregnancy. The process of diagnosis should be followed by definitive diagnostic evaluation, including beta-human chorionic gonadotropin titer measurement, ultrasonographic assessment (2 and 3-dimensional), magnetic resonance imaging, diagnostic laparoscopy, and finally biopsy of the lesion. \u0000Key words: Cesarean scar pregnancy, Ectopic pregnancy, Hydatidiform mole, Molar pregnancy.","PeriodicalId":318611,"journal":{"name":"International Journal of Reproductive BioMedicine (IJRM)","volume":" 12","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140382369","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Fahimeh Sadat Tabatabaei Mirokabad, Mohammad Poorebrahimi, Sajad Zare Garizi, R. Tabatabaei
{"title":"Ruptured ovarian ectopic pregnancy in a primigravid woman: A case report","authors":"Fahimeh Sadat Tabatabaei Mirokabad, Mohammad Poorebrahimi, Sajad Zare Garizi, R. Tabatabaei","doi":"10.18502/ijrm.v22i2.15713","DOIUrl":"https://doi.org/10.18502/ijrm.v22i2.15713","url":null,"abstract":"Background: Ovarian ectopic pregnancy (EP) is one of the rare forms of EP. The use of intrauterine devices and assisted reproduction techniques are among the most important risk factors for ovarian EP. Clinical signs are usually menopause, abdominal pain, and vaginal bleeding. Definitive diagnosis of ovarian EP before its rupture remains a serious challenge and, in most cases, it is diagnosed after rupture when medical treatment has no place and surgery becomes necessary. \u0000Case Presentation: Here, we report a 35-yr-old primigravida woman referred to Shahid Sadoughi hospital, Yazd, Iran with abdominal pain and sudden loss of consciousness. An initial evaluation was done and she underwent laparotomy. \u0000Conclusion: The preferred treatment for ovarian EP is to surgically remove the gestational sac and preserve as much ovarian tissue as possible. However, some cases, like ours, need a complete or partial oophorectomy. \u0000Key words: Ectopic pregnancy, Pregnancy, Ovarian, Laparotomy.","PeriodicalId":318611,"journal":{"name":"International Journal of Reproductive BioMedicine (IJRM)","volume":"114 5","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140381491","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Sharareh Hekmat, Mohammad Sharifzadeh, T. Toliyat, Roghayeh Savary Kouzehkonan, Mozhgan Mehri Ardestani, M. Tabarrai, S. N. Sadati Lamardi
{"title":"Urtica pilulifera L. seed extract promotes folliculogenesis and alleviates the diminished ovarian reserve in the Balb/c mice model: An experimental study","authors":"Sharareh Hekmat, Mohammad Sharifzadeh, T. Toliyat, Roghayeh Savary Kouzehkonan, Mozhgan Mehri Ardestani, M. Tabarrai, S. N. Sadati Lamardi","doi":"10.18502/ijrm.v22i2.15708","DOIUrl":"https://doi.org/10.18502/ijrm.v22i2.15708","url":null,"abstract":"Background: Urtica pilulifera L. seed (UPS) is a Persian traditional medicine prescription that positively affects female infertility. \u0000Objective: This study aimed to evaluate the beneficial effects of UPS on a diminished ovarian reserve (DOR) model induced by cyclophosphamide in Balb/c mice. \u0000Materials and Methods: A single intraperitoneal (75 mg/kg) of cyclophosphamide was administered to establish a DOR model. 25 female Balb/c mice (6–8 wk, 25 ± 2 gr) were randomly divided into 5 groups (n = 5/each), including control (normal saline), model (DOR), DOR+50, DOR+100, and DOR+200 (mg/kg UPS, gavage) groups for 14 days. The levels of follicle-stimulating hormone, luteinizing hormone, estradiol, malondialdehyde, superoxide dismutases, apoptosis, and histopathological alterations were analyzed. Gas chromatography-mass spectrometry analysis was performed to identify the phytochemicals of the UPS. \u0000Results: It was observed that the UPS extract reduced malondialdehyde concentration and apoptosis in the DOR model as well as enhanced superoxide dismutases activity in the ovaries in a dose-dependent manner. Moreover, it exerted a modulatory effect on steroidal hormones such as follicle-stimulating hormone, luteinizing hormone, and estradiol. The histopathological analysis revealed the therapeutic potential of the UPS extract. The main chemical components of UPS were linoleic acid (59.25%), n-hexadecanoic acid (10.36%), and oleic acid (8.29%). \u0000Conclusion: The results indicated that the UPS extract has therapeutic potential in the DOR model. This potential is attributed to the reduction of oxidative stress, modulation of apoptosis, and regulation of steroidal hormones that may be associated with the observed beneficial effects of fatty acids on fertility improvement. \u0000Key words: Apoptosis, Fatty acids, Female infertility, Herbal medicine, Persian medicine, Oxidative stress.","PeriodicalId":318611,"journal":{"name":"International Journal of Reproductive BioMedicine (IJRM)","volume":" 1118","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140382601","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"The antiapoptotic effects of conditioned medium from bone marrow-derived mesenchymal stromal stem cells on cyclophosphamide-induced testicular damage in rat: An experimental study","authors":"Zeynab Esmailpour, Soheila Madadi, Maryam Baazm","doi":"10.18502/ijrm.v22i2.15706","DOIUrl":"https://doi.org/10.18502/ijrm.v22i2.15706","url":null,"abstract":"Background: Cyclophosphamide (CP) has some negative effects on the reproductive system. Stem cells and their metabolites are being utilized to enhance fertility after chemotherapy. \u0000Objective: This study aimed to investigate the impact of conditioned medium (CM) derived from bone marrow mesenchymal stromal stem cells (BM-MSCs) on the toxic effects of CP on testicles. \u0000Materials and Methods: BM-MSCs were isolated, a CM was collected and 25-fold concentrated. 24 male Wistar rats (8 wk, 200–250 gr) were randomly divided into following groups: control, CP, CP+DMEM, CP+CM. CP was given at a single dose of 100 mg/kg. 2 wk after the CP administration, CM was injected into the testicular efferent duct. Sperm parameters, testicular histopathology, and the level of testosterone were analyzed 2 months after treatment. The expression of B-cell lymphoma 2 (Bcl2) and Bcl2-associated X protein (Bax) genes were evaluated by real-time polymerase chain reaction. \u0000Results: CP had a negative effect on testis histology (p < 0.001) and sperm quality (p < 0.001). It changed the expression of genes associated with apoptosis (p < 0.001). Treatment with CM reduced the expression of Bax (p < 0.001), while significantly increasing the expression of Bcl2 (p = 0.01). It improved sperm count (p = 0.03), viability (p < 0.001), motility (p < 0.001), spermatogonial count (p < 0.001), and epithelial thickness of testicular tubules (p = 0.02). \u0000Conclusion: These findings suggest that CM produced from BM-MSCs may be valuable for therapeutic approaches in reproductive medicine and may lessen the side effects of CP. \u0000Key words: Bone marrow mesenchymal stem cells, Cyclophosphamide, Conditioned medium, Apoptosis, Spermatogenesis.","PeriodicalId":318611,"journal":{"name":"International Journal of Reproductive BioMedicine (IJRM)","volume":" 8","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140382167","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Neda Farajnezhad, P. Ghandil, Maryam Tahmasebi-Birgani, Javad Mohammadi-Asl
{"title":"Folate gene polymorphisms CBS 844ins68 and RFC1 A80G and risk of Down syndrome offspring in young Iranian women: A cross-sectional study","authors":"Neda Farajnezhad, P. Ghandil, Maryam Tahmasebi-Birgani, Javad Mohammadi-Asl","doi":"10.18502/ijrm.v22i2.15709","DOIUrl":"https://doi.org/10.18502/ijrm.v22i2.15709","url":null,"abstract":"Background: Cytogenetics and association studies showed that folate gene polymorphisms can increase the risk of chromosomal nondisjunction and aneuploidies. The folate-metabolizing gene polymorphisms in Down syndrome mothers (DSM) have been assessed in a variety of populations. Reduced folate carrier 1 (RFC1) and cystathionine beta-synthase (CBS) are key enzymes in folate metabolism. \u0000Objective: 2 common polymorphisms, CBS 844ins68 and RFC1 A80G, were analyzed to determine their probable risk for having Down syndrome (DS) babies in young mothers of Khuzestan province, Iran. \u0000Materials and Methods: This study was conducted on 100 mothers who had trisomy 21 DS children. 100 age- and ethnic-matched mothers with at least 2 healthy children and no history of abnormal pregnancies were considered as control. The samples were collected from all the mothers from June 2019 to April 2021. Genomic DNA was extracted from peripheral blood. The CBS-844ins68 and RFC1-A80G were genotyped using polymerase chain reaction-electrophoresis and restriction fragment length polymorphism, respectively. \u0000Results: The frequency of RFC1 AG and GG genotypes in DSM was significantly higher than the control mothers (odds ratio [OR] of 2.38 and 3.07, respectively). The heterozygote genotype of CBS 844ins68 was significantly more prevalent among DSM than the control (OR: 2.419). The OR was significantly increased to 6.667 when the homozygote of both variants was found together. \u0000Conclusion: Studying polymorphisms possibly increases the susceptibility of having a DS child. However, ethnicity, nutrition, and epistatic interactions are considerable factors to be evaluated in future studies. \u0000Key words: Down syndrome, Folic acid, Polymorphism, CBS, RFC1.","PeriodicalId":318611,"journal":{"name":"International Journal of Reproductive BioMedicine (IJRM)","volume":"7 18","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140381577","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}